L53L (p.Leu53Leu) variant of KCNT1 (Q5JUK3)
L53L (p.Leu53Leu) in KCNT1 (Q5JUK3) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
L53L (p.Leu53Leu) variant details
- p.Leu53Leu
- gnomAD 9-135714604-C-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.255
- CADD 6.17
- Population evidence available
- Structural context available
- Literature evidence available